Horev Liran, Djabali Karima, Green Jack, Sinclair Rodney, Martinez-Mir Amalia, Ingber Arieh, Christiano Angela M, Zlotogorski Abraham
Department of Dermatology, Hadassah University Medical Center, Jerusalem, Israel.
Exp Dermatol. 2003 Dec;12(6):882-5. doi: 10.1111/j.0906-6705.2003.00022.x.
Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in whicn the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb2 and hHb6 genes in seven patients. In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1).
最近有报道称，毛发角蛋白hHb1和hHb6的突变会导致单发性脆发病，这是一种常染色体显性遗传的毛干疾病，其特征为不同程度的毛发脆弱和毛囊角化过度。我们发现了10个单发性脆发病家族，这些家族的父母在临床上未受影响，并对7名患者的毛发角蛋白hHb1、hHb2和hHb6基因进行了测序。在5名患者中未发现突变，而在两名患者中，我们在螺旋终止基序处鉴定出了新生的种系错义突变：E402K（hHb6）和E413K（hHb1）。
